Cystinosis is a rare, inherited, metabolic disease that is characterized by the abnormal accumulation of the amino acid cystine in each cell. The build-up of cystine in the cells slowly and eventually destroys all major organs of the body including the kidneys, liver, eyes, muscles, bone marrow, thyroid and brain. Although medication is available to control some of the symptoms of this insidious disease, Cystinosis remains incurable.

Monday, April 02, 2007

The National Institute of Health

Chrissy, Holt and I made the drive to Washington, DC last week for our introduction to the team at the National Institute of Health. This team led by Dr. Gahl, are the world's foremost experts on Cystinosis and over the past 20 years, they have seen and tracked the progress of over 200 Cystinosis patients. We are fortunate in Charlotte to have a pediatric nephrologist in Dr. McKay who is well versed in Cystinosis (Dr. Gahl was pleasantly surprised that Dr. McKay made the correct diagnosis so quickly as many patients are incorrectly diagnosed before finally getting it right) and are confident that between the two, we are getting Holt the finest care available anyhwere. In addition, Chrissy has made contact with several parents of Cystinosis patients who have been very willing to offer advice and expertise and we are at the moment still soaking it all in. It's a lot to soak in.

It's about a 6.5 hour drive to the DC area and Holt did really well; he has such a laid back disposition. We arrived Tuesday evening at approx 9:00 pm and stayed on campus at The Children's Inn at NIH. We are here for a battery of tests that will set benchmarks for Holt for all of the different body functions that Cystinosis impacts. With these benchmarks, we can compare his yearly test results so that we can understand how the medicines are impacting his ability to keep the disease in check. Tests and x-rays and pictures and bloodwork- for three days is a lot. But, if you are a Cystinosis patient, you want acccess to Dr. Gahl's research so that you can be best prepared when working with the doctors at home. This will also ensure that as he gets older, he will have access to the currently non-FDA approved eye drops which will dissolve the crystals that are forming in his eyes.

The trip was reasonably uneventful but the every 6 hour meds schedule is taking a lot of getting used to- 10am-4pm-10pm-4am and its having a physical and mental toll on us all. I say uneventful- it almost seems routine that Holt is having blood drawn-or x-rays, or ultrasounds- he and all of his 18.5 pounds are so incredibly brave. Just like anyone who is being held down against their will- he fights and he fights hard- if you're going to stick him, you're going to have to earn it! The meds have helped some already and have helped bring his Rickets under control. This should enable him to re-start the growth process in another few months. Dr. Gahl remarked that Holt being at the 10th percentile in height is exceptional (most all Cystinosis children are at 3% or lower) and that the tallest patient with Cystinosis that Dr. Gahl is aware of is approx. 5'-6"- he may challenge for the title. The smell and taste of the medicine are nauseating and as such, it causes Holt to gag and vomit at almost every dosing. The amount and frequency of meds that the kid takes is staggering.

Many thanks to Mimi and Grammy for taking such good care of MaryLogan and Jack while we were gone. This trip was really important to us and we could not have done this without their help. We continue to be extremely grateful to our friends who continue to show their support and generosity throughout this very difficult time- the food and your help have been remarkable and we cannot say thank you enough. Chrissy and I are working hard to ensure that we are good parents to all 3 of our children and that we make them all feel special every day. Mary Logan is playing soccer and participating in dance class and Jack has just finished his first round of swimming lessons. Our new addition to the family- Spicy the Cat has been a hit and is quickly learning the ropes. Thanks for all of your kind words and your prayers.

Until next time-
Cheers

3 comments:

Frannie Phillips said...

Hi guys...
Our prayer for Holt and Jack is that they'll both be as towering and intimidating as all the Grier boys were/are! Seriously though... My prayer group lifts Holt and you guys up weekly with prayers for strong bones and great vision. This week, I'll also be praying that he can stomach his meds better, that you guys will find ways to spend lots of great time with Mary Logan & Jack, and that you'll grow ever closer to each other through all of this. Michelle McGee came to visit last weekend (and this weekend), and she has great insight on the effects of certain compounds on the liver/bones/eyes... if you'd ever like to run stuff past her. She's a genius! Anyway, Ava is the first to talk about "Baby Holt" when I tell her it's time to say prayers. She wanted to know if Holt was the one sleeping in our crib in our guest room, when McGee & her son were visiting. She was bummed to hear that Baby Holt was not in the room. Please consider using Roanoke as a stop-off point if the travel gets too long. We'd love to have all five of you! I'll bet you guys go through Richmond though. We love you guys. This week we pray for your strength and for Holt's amazing healing and for a cure for cystinosis.

Candace Griffin said...

Jason and Family,
This is Candace, Dan's Middle daughter. I want to write and let you know that the families thoughts and prayers are with you all. If you need anything please let us know. Jason, Holt looks just like you he is so handsome and cute. You have a beautiful family. God Bless you guys.
Love The Griffins

Trey said...

Hello
I am Rosa Griffins oldest son. I am glad to hear that Holt is doing a little better.You are in our prayers and thoughts all the time.If you need anythig just let us know.
Hugs
Trey and Barbara